Variant report

Variant	esv3502901
Chromosome Location	chr11:55023375-55024322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200748578	chr11:55023390-55023391	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576320325	chr11:55023395-55023396	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201821145	chr11:55023400-55023401	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543231094	chr11:55023407-55023408	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200354364	chr11:55023409-55023410	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372768267	chr11:55023419-55023420	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4938867	chr11:55023430-55023431	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541491864	chr11:55023433-55023434	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370256723	chr11:55023443-55023444	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530009532	chr11:55023444-55023445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553801068	chr11:55023451-55023452	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199564625	chr11:55023452-55023453	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570234546	chr11:55023466-55023467	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200425340	chr11:55023472-55023473	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113971007	chr11:55023478-55023479	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531286832	chr11:55023479-55023480	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61898387	chr11:55023492-55023493	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201661718	chr11:55023493-55023494	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199772040	chr11:55023494-55023495	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75065781	chr11:55023498-55023499	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533485429	chr11:55023500-55023501	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188064674	chr11:55023504-55023505	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201710892	chr11:55023505-55023506	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372783314	chr11:55023511-55023512	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545823520	chr11:55023515-55023516	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191235527	chr11:55023517-55023518	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553421641	chr11:55023535-55023536	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565780259	chr11:55023542-55023543	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535853807	chr11:55023544-55023545	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182604608	chr11:55023552-55023553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538689917	chr11:55023554-55023555	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554577091	chr11:55023563-55023564	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562568162	chr11:55023564-55023565	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576254606	chr11:55023568-55023569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142808398	chr11:55023574-55023575	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199674829	chr11:55023576-55023577	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144052454	chr11:55023585-55023586	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374212604	chr11:55023589-55023590	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577085489	chr11:55023590-55023591	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541245380	chr11:55023595-55023596	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200770000	chr11:55023598-55023599	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201904514	chr11:55023599-55023600	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78887978	chr11:55023617-55023618	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112777244	chr11:55023628-55023629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201996292	chr11:55023648-55023649	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191343691	chr11:55023651-55023652	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185048814	chr11:55023654-55023655	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187756594	chr11:55023660-55023661	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111905071	chr11:55023662-55023663	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200743567	chr11:55023670-55023671	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55006200-55026600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr11:55006200-55027600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr11:55007000-55027000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr11:55015000-55026600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:55015000-55026600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr11:55015600-55025600	Weak transcription	K562	blood
7	chr11:55015600-55026200	Weak transcription	NHEK	skin
8	chr11:55015600-55026200	Weak transcription	NHLF	lung
9	chr11:55017000-55025600	Weak transcription	Hela-S3	cervix
10	chr11:55017000-55025600	Weak transcription	HSMMtube	muscle
11	chr11:55022600-55023800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr11:55023200-55023800	ZNF genes & repeats	Fetal Heart	heart
13	chr11:55023800-55026200	Weak transcription	Fetal Heart	heart

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